Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE Interestingly, a common polymorphic form of human NQO1, p.P187S, is associated with an increased risk of several forms of cancer. 30518535

2019

dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation. 31091472

2019

dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE In this work, binding of anions to the FAD binding pocket of human NAD(P)H:quinone oxidoreductase 1 (NQO1), a flavoprotein associated with cancer due to a common polymorphism causing a P187S amino acid substitution, was investigated. 30615965

2019

dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE Additionally, the cancer-associated P187S polymorphism causes inactivation and destabilization of the enzyme. 30243998

2019

dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE Structural protein:protein interaction studies reveal that the cancer-associated polymorphism does not abolish the interaction with p73α, indicating that oncosuppressor destabilization largely mirrors the low intracellular stability of p.P187S. 28291250

2017

dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE Here, we use biochemical, biophysical, cell and computational biology tools to study two loss-of-function and cancer-associated polymorphisms (p.R139W and p.P187S) in human NAD(P)H quinone oxidoreductase 1 (NQO1), a FAD-dependent enzyme which activates cancer pro-drugs and stabilizes several oncosuppressors. 26838129

2016

dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE The NQO1 polymorphism C609T (Pro187Ser) and cancer susceptibility: a comprehensive meta-analysis. 23860519

2013

dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE This meta-analysis suggested that Ser allele of NQO1 Pro187Ser significantly contributed to the increased risks of colorectal adenoma and cancer in Caucasians. 22306249

2012

dbSNP: rs1258159645
rs1258159645
0.090 GeneticVariation BEFREE The gene coding for NQO1 has a single nucleotide polymorphism (C-->T) at nucleotide position 609 (proline to serine substitution at position 187 in amino acid sequence (P187S)) (rs1800566) of the NQO1 cDNA which results in very low enzimatic activity, so it would be expected that individuals with the homologous NQO1 C609T polymorphism would have a susceptibility developing cancer. 21133623

2010